Common Variable Immunodeficiency

Common Variable Immunodeficiency 

Updated: 08/17/2020

© Jun Wang, MD, PhD

General features
  • Heterogeneous group with no clearly understood etiology
  • Hereditary or sporadic
  • No recognizable inheritance pattern
  • High risk of autoimmune, inflammatory and malignant disorders
  • Increased risk of gastric carcinoma, melanoma and EB virus associated B cell lymphoma
  • Diagnosis of exclusion
Clinical presentations
  • 5 distinct clinical phenotypes
No complications
Antoimmunity
Polyclonal lymphocytic infiltrate
Enteropathy
Lymphoid malignancy
  • Recurrent infections including diarrhea, pneumonia, otitis media, sinusitis etc
  • Splenomegaly and generalized lymphadenopathy
  • Autoimmune disorders
  • Skin manifestations: Alopecia, etc
Genetic abnormalities
  • Variable
  • Transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI)
  • Inducible co-stimulator of activated T cells (ICOS)
  • Others
Pathogenesis
  • Defects in immunoglobulin production due to either intrinsic B-cell abnormalities, or T-cell mediated activation of B cells
  • Defective immunoglobulin isotype switch
  • Impaired toll-like receptor signaling in B cells and dendritic cells
  • Decreased T cell proliferation
  • Reduced response to T cell receptor stimulations
Key Laboratory findings
  • Significantly reduced IgG
  • Low IgA and/or IgM
  • Poor or absent response to immunization
  • Usually normal CBC, urinalysis unless comorbidity occurs
Key morphological features
  • Loss of plasma cells in tissue
Diagnosis
  • Diagnosis of exclusion
  • Absence of any other defined immunodeficiency state
Managements
  • Immunoglobulin replacement
  • Treatments of infections
  • Treatments targeting organ involved


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Contents

Pathology notes Jun Wang, MD, PhD 1. General information Frequently discussed syndromes Terms of dermatology Terms of hematology 2. Primary immunodeficiency disorders 3. Hemodynamic abnormalities Shock Thrombosis and embolism Bleeding disorders 4.  Benign blood cell disorders Anemia Benign white cell disorders 5. Hematopoietic neoplasms Lymphoid neoplasms Myeloid neoplasms Histiocytic neoplasms: Langerhans cell histiocytosis 6. Cardiovascular system Pulmonary hypertension Cardiovascular system tumors 7. Respiratory tract tumors 8. Gastrointestinal tract Congenital disorders Infectious gastroenteritis Oral cavity Esophagus Stomach Intestinal tumors Salivary glands Exocrine pancreas and gallbladder 9. Urinary system Kidney masses Lower urinary tract 10. Male reproductive system 11. Female genital tract 12. Breast 13. Endocrine organs Pituitary gland Adrenal gland Thyroid gland Parathyroid gland Endocrine pancreas M
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Anemia

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Lymphoid neoplasms

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